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- W2015011628 abstract "Spinal muscular atrophy with respiratory distress type 1 is a clinically and genetically distinct form of spinal muscular atrophy type 1 that results from irreversible degeneration of alpha-motor neurons in the anterior horns of the spinal cord. A 3 month-old girl presented with neonatal respiratory distress followed by progressive limb weakness and marked generalized hypotonia with areflexia. Despite supportive measures, the baby died of respiratory insufficiency at 23 months of age. Extensive electrophysiological examinations, nerve and muscle biopsies at 5 and 10 months of age, molecular investigations and post mortem studies were performed. Progressive and severe axonal neuropathy, unilateral phrenic paralysis and a generalised neurogenic pattern were found in consecutive electrophysiological examinations. Histochemical studies of nerve and muscle biopsies revealed progression of damage including axonal loss and neurogenic muscle atrophy. Post-mortem studies demonstrated significant neuronal loss of motor neurons in the anterior horns of the spinal cord and a severe axonal depletion in peripheral nerves. Molecular analysis of IGHMBP2 on 11q13-q21 revealed the nonsense mutations R147X and C496X in the patient, from maternal and paternal origin, respectively. This is the first Spanish patient with SMARD1 and one of the very few with post-mortem studies. Early respiratory insufficiency and muscle weakness of unclear cause in children should alert of SMARD1. IGHMBP2 gene should be sequenced, once SMA gene mutations have been ruled out." @default.
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- W2015011628 date "2011-10-01" @default.
- W2015011628 modified "2023-09-24" @default.
- W2015011628 title "P3.4 Spinal muscular atrophy with respiratory distress type 1 (SMARD-1). A clinico-pathological follow-up" @default.
- W2015011628 doi "https://doi.org/10.1016/j.nmd.2011.06.898" @default.
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